基因测序,系统性红斑狼疮 z-bo 2020-09-15 605

　　Recently, a study published in "Arthritis & Rheumatology" conducted DNA sequencing on a young patient with systemic lupus erythematosus and discovered a special mutation gene-TREX1 that causes the disease. TREX1 mutants can cause the cells of patients to produce interferon alpha, which has been a drug target for the treatment of adult patients in clinical trials.

　　In the study, researchers at John Curtin Medical School tested a little girl who had suffered a stroke at the age of 4 due to systemic lupus erythematosus. Jeff Chaitow, who participated in the study, said that the little girl is now 10 years old and still needs to take steroids and immunosuppressive drugs every day. The new targeted therapy will play a great role in controlling her condition.

　　Systemic lupus erythematosus is a chronic autoimmune disease, which occurs mostly in young women. Patients will have many different symptoms, affecting 5 million people around the world. Although the fatality rate of patients with lupus erythematosus has decreased with the improvement of clinical diagnosis and treatment, it is still the most disabling and fatal autoimmune disease.

　　The cause of the disease is still unclear. A large number of studies have shown that heredity, infection, endocrine, immune abnormalities and some environmental factors are related to the disease. This study found that systemic lupus erythematosus may be mainly caused by one or several genetic defects. Understanding each patient's own defective gene associated with the disease can help doctors adjust treatment methods.

　　Related research

　　Previously, in a study published in the journal Cell Reports, researchers from Yale University discovered a gene mutation that causes lupus in mice-POLB. The researchers constructed a mutant POLB mouse model. The mice showed symptoms of slow DNA synthesis and low DNA expression, and subsequently developed disease features similar to systemic lupus erythematosus, including dermatitis and kidney disease. This finding suggests that abnormal DNA repair is one of the causes of lupus.

　　In addition to new breakthroughs in genetic research, Professor Zhang Xuan of Peking Union Medical College and others found that systemic lupus erythematosus is associated with a protein called PTEN. The related research was published in the United States on July 23. Science Translational Medicine. Researchers analyzed the B cells in the peripheral blood of newly diagnosed and untreated patients with lupus erythematosus and found that the level of PTEN protein decreased, which led to the hyperresponsiveness of the patient’s B cells. Further studies showed that the expression of PTEN protein may be controlled by several miRNAs. , Including miR-21, miR-22 and miR-7, among which miR-7 is especially related to PTEN protein expression defects.